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Human Disease
facioscapulohumeral muscular dystrophy 1
- Term ID
- DOID:0111192
- Synonyms
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- facioscapulohumeral muscular dystrophy type 1
- facioscapulohumeral muscular dystrophy type 1A
- FSHD1
- Definition
- A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. (2)
- References
- Ontology
- Human Disease ( DOID:0111192 )
- is a type of
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Genes Involved
Zebrafish Models